A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428149



Internal ID18624599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:78180759..78390046hg38UCSC Ensembl
Innerchr6:78890476..79099763hg19UCSC Ensembl
Innerchr6:78947195..79156482hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38209288
hg19209288
hg18209288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450799, nssv450804, nssv450803, nssv450795, nssv450793, nssv450800, nssv450792, nssv450787, nssv450784, nssv450788, nssv450790, nssv450802, nssv450801, nssv450789, nssv450785, nssv450791, nssv450794, nssv450783, nssv450796
SamplesHGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01089, NA18916, NA18498, HGDP00450, HGDP00473, HGDP00986, HGDP00467, NA19113, NA19108, HGDP01094, HGDP00984, HGDP00472, NA19096, HGDP01086, HGDP00449
Known Genes
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nsv428149
Frequency
Sample Size62
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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